1. Panels
  2. Ciliary Dyskinesia
  3. MCIDAS
STRs in panel
Prev Next
Regions in panel
Prev Next

Ciliary Dyskinesia

Gene: MCIDAS

Green List (high evidence)
MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein)
EnsemblGeneIds (GRCh38): ENSG00000234602
EnsemblGeneIds (GRCh37): ENSG00000234602
OMIM: 614086, Gene2Phenotype
MCIDAS is in 5 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

3 different variants reported in 4 unrelated families with PCD


PMID: 25048963: 3 different homozygous variants reported in 4 unrelated families. Situs invertus not observed in any of the 9 individuals reported. Functional studies showed reduction of cilia. None of the variants identified were observed in gnomAD at unexpected frequency for a recessive condition.
Created: 1 Jun 2020, 3:55 a.m. | Last Modified: 1 Jun 2020, 3:55 a.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 42 (MIM#618695)

Publications

Created: 1 Jun 2020, 3:55 a.m.
Last Modified: 1 Jun 2020, 3:55 a.m.
Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 42 (MIM#618695)
OMIM
614086
Clinvar variants
Variants in MCIDAS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcidas has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MCIDAS were changed from to Ciliary dyskinesia, primary, 42 (MIM#618695)

1 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MCIDAS were set to

1 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MCIDAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MCIDAS was added gene: MCIDAS was added to Ciliary dyskinesia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MCIDAS was set to Unknown